Centre de Référence des Maladies Neuromusculaires de l'enfant PACARARE, Service de Neuropédiatrie, Hôpital de la Timone Enfants, Marseille, France.
Centre de Référence des Maladies Neuromusculaires Nord/Ile de France/Est, Service de Neurologie pédiatrique, Hôpital Necker-Enfants Malades, APHP, Paris, France.
Arch Pediatr. 2020 Dec;27(7S):7S15-7S17. doi: 10.1016/S0929-693X(20)30271-2.
Spinal muscular atrophy type I, also called Werdnig-Hoffmann disease, is the most serious form. The disease appears before the age of 6 months and is characterized by major global hypotonia and abolition of tendon reflexes, with children never being able to sit unaided. Cognitive development is normal and the expressive gaze of these children contrasts with the paralytic attitude. Respiratory involvement predominates in the intercostal muscles, and sometimes brainstem involvement are all serious aspects of the disease. Type I spinal muscular atrophy has been subdivided into 3 groups: - type IA, the clinical signs of which set in between birth and 15 days of life with sudden severe motor impairment, sucking-swallowing disorders attesting to bulbar involvement, respiratory distress. - type IB with onset of symptoms before the age of 3 months, which implies no head control - type IC starting between 3 and 6 months with the possibility of checking head control, often referred to as "I bis" by French practitioners. The development and use of innovative therapies in recent years does actually change the natural course of this disease. But we do not know for sure what the long-term evolution of infants who received these new therapies will be. © 2020 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
脊髓性肌萎缩症 I 型，又称沃伯格-霍夫曼病，是最严重的类型。该病在 6 个月前出现，其特征为全身严重肌无力和腱反射消失，患儿无法独立坐立。认知发育正常，这些患儿的表达性眼神与瘫痪姿势形成鲜明对比。呼吸肌受累为主，有时脑干受累是疾病的严重方面。I 型脊髓性肌萎缩症已细分为 3 组： - IA 型，其临床症状在出生至 15 天内出现，伴有突然严重的运动功能障碍，吸吮吞咽障碍提示延髓受累，呼吸窘迫。 - 发病年龄在 3 个月前的 IB 型，意味着无头部控制 - 发病年龄在 3 至 6 个月间的 IC 型，有头部控制检查的可能性，常被法国医生称为“IB bis”。近年来创新疗法的发展和应用确实改变了这种疾病的自然病程。但是，我们并不确定接受这些新疗法的婴儿的长期演变会如何。 © 2020 法国儿科学会。由 Elsevier Masson SAS 出版。保留所有权利。
